Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVD/C) is a genetically heterogeneous disease characterized by progressive degeneration of the right ventricular myocardium and increased risk of sudden death. Here, we report on a genome scan in one Italian family in which the disease appeared unlin...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Rampazzo, Alessandra, Nava, Andrea, Malacrida, Sandro, Beffagna, Giorgia, Bauce, Barbara, Rossi, Valeria, Zimbello, Rosanna, Simionati, Barbara, Basso, Cristina, Thiene, Gaetano, Towbin, Jeffrey A., Danieli, Gian A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2002
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Report
Online Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC385098/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12373648/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/344208
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